Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

Proband Tables

Summaries focusing on proband-level evidence; browse by gene.

Back to Open Access Summaries
Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us

Gene Allelic Consistency Phenotypic Consistency Penetrance Ethnic Diversity Inheritance Consistency Mechanism of disease Actions
TTC19
(HGNC:26006)
 Moderate Moderate Strong Strong Strong Strong
RETREG1
(HGNC:25964)
 Moderate Weak Moderate Weak Strong Strong
SRD5A3
(HGNC:25812)
 Strong Moderate Strong Moderate Strong Strong
ABRAXAS1
(HGNC:25829)
 Weak Weak Weak Strong Weak Moderate
CLIP2
(HGNC:2586)
 Weak Weak Weak Weak Weak Moderate
ORAI1
(HGNC:25896)
 Weak Weak Strong Moderate Weak Moderate
WDR73
(HGNC:25928)
 Moderate Moderate Strong Strong Strong Strong
ADK
(HGNC:257)
 Weak Weak Strong Strong Strong Strong
DCAF17
(HGNC:25784)
 Strong Moderate Strong Strong Strong Strong
USB1
(HGNC:25792)
 Moderate Moderate Strong Strong Strong Strong
REEP1
(HGNC:25786)
 Weak Weak Weak Strong Weak Moderate
NHEJ1
(HGNC:25737)
 Moderate Weak Weak Strong Moderate Moderate
TRAPPC11
(HGNC:25751)
 Weak Weak Strong Strong Strong Strong
PGAP1
(HGNC:25712)
 Moderate Weak Strong Moderate Strong Strong
CARS2
(HGNC:25695)
 Moderate Weak Strong Weak Strong Strong
CYB5A
(HGNC:2570)
 Weak Weak Strong Moderate Moderate Strong
GORAB
(HGNC:25676)
 Weak Moderate Strong Strong Strong Strong
MAMLD1
(HGNC:2568)
 Weak Weak Strong Moderate Strong Moderate
RNASEH2B
(HGNC:25671)
 Moderate Moderate Moderate Weak Weak Moderate
TTC21B
(HGNC:25660)
 Moderate Weak Moderate Strong Moderate Strong
Showing 661–680 of 1365